Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.

ALZHEIMER DISEASE & ASSOCIATED DISORDERS(2004)

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摘要
We describe a novel Leu174Arg PSI mutation in two members of a Bavarian family which were initially diagnosed with frontotemporal dementia. Intriguingly, there is the possibility that there is an 18(th) century founder effect and that this family is related to original kindreds with familial Alzheimer disease described in the early 20(th) century.
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关键词
dementia,Alzheimer,PSI,presenilin,fronto-ternporal dementia
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